Variance in human physiological traits is understood to be the result of both environmental and genetic factors. Indeed, it has been reported that 66 % of the variance in athletic status is explained by genetic factors. Elucidating the substantial genetic contribution to elite athletic performance would enhance our understanding of the limits to human performance and improve methods for detecting sports talent. To date, a number of studies have attempted to identify genetic polymorphisms associated with athletic performance, and the number of genetic polymorphisms associated with physical performance-related phenotypes are increasing every year. In this chapter, we introduce some of these studies focusing on mitochondrial DNA polymorphisms and the two most studied nuclear DNA polymorphisms, namely angiotensin I-converting enzyme (ACE) and a-actinin-3 (ACTN3) polymorphisms.
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